title: New frequent mutation in the PCCB gene in Spanish propionic acidemia patients.
authors.affiliation: Centro de Biología Molecular Severo Ochoa CSIC-UAM, Universidad Autónoma de Madrid, Spain.
authors.forename: J
authors.initials: J
authors.lastname: Hoenicka
authors.forename: P
authors.initials: P
authors.lastname: Rodríguez-Pombo
authors.forename: C
authors.initials: C
authors.lastname: Pérez-Cerdá
authors.forename: S
authors.initials: S
authors.lastname: Muro
authors.forename: E
authors.initials: E
authors.lastname: Richard
authors.forename: M
authors.initials: M
authors.lastname: Ugarte
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D019735:Carbon-Carbon Ligases / Q000172:deficiency / Q000235:genetics*; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D005192:Family Health; D016368:Frameshift Mutation; D006720:Homozygote; D006801:Humans; D016254:Mutagenesis, Insertional; D009154:Mutation; D011422:Propionates / Q000378:metabolism*; D013030:Spain
chemical_list: D018076:DNA, Complementary; D011422:Propionates; D019735:Carbon-Carbon Ligases; C022458:propionyl CoA carboxylase (ATP-hydrolyzing); C029658:propionic acid